| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127672093C>T | CA16044277 | STXBP1 | c.964C>T (p.Gln322Ter) c.1006C>T (p.Gln336Ter) c.*648C>T (n.*648C>T) c.*1870C>T (n.*1870C>T) c.948C>T n.842C>T c.997C>T (p.Gln333Ter) c.898C>T (p.Gln300Ter) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127672093C= | CA1879916848 | STXBP1 | c.964C= (p.Gln322=) c.1006C= (p.Gln336=) c.*648C= (n.*648C=) c.*1870C= (n.*1870C=) c.948C= n.842C= c.997C= (p.Gln333=) c.898C= (p.Gln300=) | dbSNP |